Disease: Generalized hypotonia
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
HIBCH Q6NVY1 3-hydroxyisobutyryl-CoA hydrolase Enzyme 2.6E-13 0.700 0.500
ABAT P80404 4-aminobutyrate aminotransferase Enzyme 6.3E-03 0.628 0.538
MTR Q99707 5-methyltetrahydrofolate-homocysteine methyltransferase 2.4E-12 0.482 0.808
MTRR Q9UBK8 5-methyltetrahydrofolate-homocysteine methyltransferase reductase 2.2E-14 0.502 0.808
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846
AHI1 Q8N157 Abelson helper integration site 1 1.1E-25 0.513 0.846
ACAT2 Q9BWD1 acetyl-CoA acetyltransferase 2 Enzyme 5.5E-07 0.686 0.462
ACO2 Q99798 aconitase 2 Enzyme 0.21 0.619 0.654
ACTA1 P68133 actin alpha 1, skeletal muscle Cellular structure 1.1E-06 0.540 0.769
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
ACTL6B O94805 actin like 6B Cellular structure 2.8E-04 0.656 0.462
ASCC1 Q8N9N2 activating signal cointegrator 1 complex subunit 1 2.6E-14 0.495 0.846
AUTS2 Q8WXX7 activator of transcription and developmental regulator AUTS2 1.00 0.569 0.846
ADNP Q9H2P0 activity dependent neuroprotector homeobox 1.00 0.561 0.808
ACADM P11310 acyl-CoA dehydrogenase medium chain Enzyme 2.1E-12 0.638 0.462
ACADS P16219 acyl-CoA dehydrogenase short chain 2.8E-06 0.663 0.538
ACADSB P45954 acyl-CoA dehydrogenase short/branched chain 2.7E-11 0.691 0.500
AP1S1 P61966 adaptor related protein complex 1 subunit sigma 1 Transporter 1.0E-01 0.743 0.308
AP1S2 P56377 adaptor related protein complex 1 subunit sigma 2 Transporter 0.87 0.631 0.615
AP2M1 Q96CW1 adaptor related protein complex 2 subunit mu 1 Extracellular structure 1.00 0.751 0.231
AP3B2 Q13367 adaptor related protein complex 3 subunit beta 2 Transporter 0.77 0.691 0.346
ADK P55263 adenosine kinase Kinase 3.1E-04 0.584 0.769
ADSL P30566 adenylosuccinate lyase Enzyme 8.9E-12 0.631 0.654
ARFGEF2 Q9Y6D5 ADP ribosylation factor guanine nucleotide exchange factor 2 1.00 0.659 0.462
ARL13B Q3SXY8 ADP ribosylation factor like GTPase 13B 2.7E-09 0.631 0.538